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Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

Mendelian DisorderGenetic DisorderCommon Etfdh MutationGeneticsInherited Metabolic DiseaseMolecular BiologyMolecular GeneticsDisease Gene IdentificationSouthern ChinaMedicineHigh Carrier Frequency